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INI1/SMARCB1
Clinical Genetic Test
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offered by
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics
View lab's test page
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GTR Test Accession: Help GTR000309827.4
INHERITED DISEASESYNDROMIC DISEASEINHERITED DISEASE SUSCEPTIBILITY ... View more
Last updated in GTR: 2017-04-15
View version history
Last annual review date for the lab: 2023-09-29 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Conditions (4): Help
Rhabdoid tumor predisposition syndrome 1; Coffin-Siris syndrome 1; Malignant rhabdoid tumor, somatic; ...
Genes (1): Help
SMARCB1 (22q11.23)
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); Whole genome SNP Array; ...
Target population: Help
Patients with brain, kidney or soft tissue tumors
Clinical validity: Help
98% of rhabdoid tumors have mutations/deletions in SMARCB1(INI1) Approximately 25-35% …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
  • Amniocytes
  • Bone marrow
  • Cell culture
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Skin
  • White blood cell prep
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Test Order Code: Help
SMARCB1
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Each specimen must be accompanied by a test requisition form filled out by the patient's healthcare provider. Informed consent is desirable. Proper billing information must be provided on the test requisition form. Please fill out the Cancer Test Request Form and include with the specimen. The specimens should be shipped …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Test strategy: Help
Reflex testing
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Deletion/duplication analysis
Whole genome SNP Array
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment; Screening
Clinical validity: Help
98% of rhabdoid tumors have mutations/deletions in SMARCB1(INI1) Approximately 25-35% of children with rhabdoid tumors have germline mutations/deletions/duplications
View citations (2)
  • Jackson LN, Chen LA, Larson SD, Silva SR, Rychahou PG, Boor PJ, Li J, Defreitas G, Stafford WL, Townsend CM, Evers BM. Development and characterization of a novel in vivo model of carcinoid syndrome. Clin Cancer Res. 2009;15(8):2747-55. doi:10.1158/1078-0432.CCR-08-2346. Epub 2009 Mar 31. PMID: 19336516.
  • Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Eaton KW, et al. Pediatr Blood Cancer. 2011;56(1):7-15. doi:10.1002/pbc.22831. PMID: 21108436.
Clinical utility: Help
Establish or confirm diagnosis
View citations (2)
  • Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Eaton KW, et al. Pediatr Blood Cancer. 2011;56(1):7-15. doi:10.1002/pbc.22831. PMID: 21108436.
  • Jackson et al Clinical Cancer Res

Target population: Help
Patients with brain, kidney or soft tissue tumors
Recommended fields not provided:
What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Whole genome SNP array
Test Platform:
Illumina SNP array
Test Comments: Help
MLPA to detect exon deletions/duplications
SNP based Illumina Omni1 oligonucleotide array to identify copy number abnormalities and loss of heterozygosity
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Mutations/copy number changes detected in 98% of tumors
Assay limitations: Help
Mutations may not be detected in formalin fixed tissue specimens or in samples with less than 20% tumor content
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory

Description of PT method: Help
Blinded sample exchange
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.